Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000681833 | SCV001146255 | uncertain significance | not provided | 2018-11-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000681833 | SCV002178038 | uncertain significance | not provided | 2023-03-03 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 562374). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TRPC6 protein function. This missense change has been observed in individual(s) with clinical features of TRPC6-related conditions (PMID: 30586318). This variant is present in population databases (rs768210838, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 215 of the TRPC6 protein (p.Arg215Trp). |
Gharavi Laboratory, |
RCV000681833 | SCV000809310 | likely pathogenic | not provided | 2018-09-16 | no assertion criteria provided | research |